Phenotype #0000242945
| Individual ID |
00324403 |
| Associated disease |
? |
| Diagnosis/Initial |
developmental delay, mild facial dysmorphisms, short stature, failure to thrive, microcephaly |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., typical facial features, no microcephaly, no prominent glabella, no short philtrum, micrognathia, no high forehead, abnormal ears, no strabismus, hypertelorism, epicanthal folds, no exophthalmos, no ptosis, high-arched eyebrows, no wide nasal bridge, no beaked nose, no cleft lip, no cleft palate, no downturned corners omouth, no abnormal teeth, no webbed neck ; intrauterine/postnatal growth retardation; intellectual disability/developmental delay; hypotonia; no seizures and/or distinctive EEG abnormalities; feeding difficulties; no craniofacial asymmetry; no antibody deficiency; no heart defects; stereotypies (hand washing/flapping, rocking); gut anomalies; esophagus anomalies; no lung anomalies |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
02y (2 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2020-12-11 14:17:12 +01:00 (CET) |
| Date last edited |
N/A |
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